• 제목/요약/키워드: Candidate gene association study

검색결과 229건 처리시간 0.022초

Polymorphisms in Epigenetic and Meat Quality Related Genes in Fourteen Cattle Breeds and Association with Beef Quality and Carcass Traits

  • Liu, Xuan;Usman, Tahir;Wang, Yachun;Wang, Zezhao;Xu, Xianzhou;Wu, Meng;Zhang, Yi;Zhang, Xu;Li, Qiang;Liu, Lin;Shi, Wanhai;Qin, Chunhua;Geng, Fanjun;Wang, Congyong;Tan, Rui;Huang, Xixia;Liu, Airong;Wu, Hongjun;Tan, Shixin;Yu, Ying
    • Asian-Australasian Journal of Animal Sciences
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    • 제28권4호
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    • pp.467-475
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    • 2015
  • Improvement for carcass traits related to beef quality is the key concern in beef production. Recent reports found that epigenetics mediates the interaction of individuals with environment and nutrition. The present study was designed to analyze the genetic effect of single nucleotide polymorphisms (SNPs) in seven epigenetic-related genes (DNMT1, DNMT3a, DNMT3b, DNMT3L, Ago1, Ago2, and HDAC5) and two meat quality candidate genes (CAPN1 and PRKAG3) on fourteen carcass traits related to beef quality in a Snow Dragon beef population, and also to identify SNPs in a total of fourteen cattle populations. Sixteen SNPs were identified and genotyped in 383 individuals sampled from the 14 cattle breeds, which included 147 samples from the Snow Dragon beef population. Data analysis showed significant association of 8 SNPs within 4 genes related to carcass and/or meat quality traits in the beef populations. SNP1 (13154420A>G) in exon 17 of DNMT1 was significantly associated with rib-eye width and lean meat color score (p<0.05). A novel SNP (SNP4, 76198537A>G) of DNMT3a was significantly associated with six beef quality traits. Those individuals with the wild-type genotype AA of DNMT3a showed an increase in carcass weight, chilled carcass weight, flank thicknesses, chuck short rib thickness, chuck short rib score and in chuck flap weight in contrast to the GG genotype. Five out of six SNPs in DNMT3b gene were significantly associated with three beef quality traits. SNP15 (45219258C>T) in CAPN1 was significantly associated with chuck short rib thickness and lean meat color score (p<0.05). The significant effect of SNP15 on lean meat color score individually and in combination with each of other 14 SNPs qualify this SNP to be used as potential marker for improving the trait. In addition, the frequencies of most wild-type alleles were higher than those of the mutant alleles in the native and foreign cattle breeds. Seven SNPs were identified in the epigenetic-related genes. The SNP15 in CAPN1 could be used as a powerful genetic marker in selection programs for beef quality improvement in the Snow Dragon Beef population.

Genetic characterisation of PPARG, CEBPA and RXRA, and their influence on meat quality traits in cattle

  • Goszczynski, Daniel Estanislao;Mazzucco, Juliana Papaleo;Ripoli, Maria Veronica;Villarreal, Edgardo Leopoldo;Rogberg-Munoz, Andres;Mezzadra, Carlos Alberto;Melucci, Lilia Magdalena;Giovambattista, Guillermo
    • Journal of Animal Science and Technology
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    • 제58권4호
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    • pp.14.1-14.9
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    • 2016
  • Background: Peroxisome proliferator-activated receptor gamma (PPARG), CCAAT/enhancer binding protein alpha (CEBPA) and retinoid X receptor alpha (RXRA) are nuclear transcription factors that play important roles in regulation of adipogenesis and fat deposition. The objectives of this study were to characterise the variability of these three candidate genes in a mixed sample panel composed of several cattle breeds with different meat quality, validate single nucleotide polymorphisms (SNPs) in a local crossbred population (Angus - Hereford - Limousin) and evaluate their effects on meat quality traits (backfat thickness, intramuscular fat content and fatty acid composition), supporting the association tests with bioinformatic predictive studies. Results: Globally, nine SNPs were detected in the PPARG and CEBPA genes within our mixed panel, including a novel SNP in the latter. Three of these nine, along with seven other SNPs selected from the Single Nucleotide Polymorphism database (SNPdb), including SNPs in the RXRA gene, were validated in the crossbred population (N = 260). After validation, five of these SNPs were evaluated for genotype effects on fatty acid content and composition. Significant effects were observed on backfat thickness and different fatty acid contents (P < 0.05). Some of these SNPs caused slight differences in mRNA structure stability and/or putative binding sites for proteins. Conclusions: PPARG and CEBPA showed low to moderate variability in our sample panel. Variations in these genes, along with RXRA, may explain part of the genetic variation in fat content and composition. Our results may contribute to knowledge about genetic variation in meat quality traits in cattle and should be evaluated in larger independent populations.

말에서 Dopamine Receptor D4 유전자의 변이 특성 분석 (Characterization of Dopamine Receptor D4 Gene Polymorphisms in Horses)

  • 최재영;최연주;이종안;신상민;윤민중;강용준;신문철;유지현;김현아;조인철;양병철;김남영
    • 생명과학회지
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    • 제32권1호
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    • pp.29-35
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    • 2022
  • 본 연구는 여러 말 품종에서 Dopamine Receptor D4 (DRD4)의 유전적 다형성 및 Jeju crossbred에서의 기질특성과의 연관성을 분석하였다. DRD4 유전자의 다형성은 인간을 포함한 다양한 포유동물에서 기질과 연관된 후보 유전자이다. 말의 DRD4의 엑손 3번 영역에 있는 SNP G292A는 Thoroughbred에서 호기심과 경계와 관련이 있는 것으로 보고 되었다. 세 가지 말 품종에서 DRD4 유전자 내 존재하는 변이들의 다형성을 확인하기 위해 Sanger sequencing을 활용하였다. 제주마에서 각각의 빈도는 타 품종과 큰 차이를 보였다. 말의 품성 평가는 Jeju crossbred를 이용하여 수행하였으며, 기질 평가와 접촉 평가를 활용하여 각각 5개 항목과 2개 항목을 점수화 하였다. 품성 평가 결과 각 항목 간의 높은 상관관계를 확인하였다. 말의 DRD4 유전자 내 변이와 품성 평가 결과를 비교한 결과 대립유전자 A를 가지고 있을 때 기질 평가 5개 항목에서 모두 점수가 낮은 경향을 보이는 것을 확인하였으나 유의성은 없었다. Jeju crossbred의 G292A의 SNP과 혈액 내 도파민 수치를 비교한 결과 GA형이 GG형보다 약 2.87배 높은 결과를 확인하였다. 이번 연구를 통하여 DRD4 유전자 다형성과 말의 기질을 평가하기 위한 여러 평가 방법 및 신경전달물질과의 연관성을 확인할 수 있었다. 추가적인 연구를 통하여 품성 평가를 위한 유전자 마커로서 활용 가능할 것으로 사료된다.

Macrophages로부터 IL-1β 분비 및 전사에 있어서 한국산 겨우살이 추출물 M11C (non-lectin components)의 효과 (The effect of Korean mistletoe extract M11C (non-lectin components) on IL-1β release and expression from macrophages)

  • 장성호;전명하;강태봉;문세환;이준호;성낙술;이성태;김종배;허억
    • IMMUNE NETWORK
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    • 제1권2호
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    • pp.170-178
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    • 2001
  • Background: Korean mistletoe (Viscum album) extract has been found to posses immunostimulatory activity. In this study, Korean mistletoe extract, M11C (non-lectin components), was used to know whether this extract might activate mouse peritoneal macrophages to produce interleukin $1{\beta}$ (IL-$1{\beta}$). Methods: Hemagglutination assay was carried out to examine whether M11C contained a lectin or not. To know the effect of M11C on the production of IL-$1{\beta}$, the macrophages were treated by the M11C, and then collected the supernatant (M11C stimulated macrophages-conditioned media; MMCM). MMCM was analyzed for the IL-$1{\beta}$ quantification and mRNA expression by means of ELISA and RT-PCR, respectively. Results: Maximum effective dose and time of M11C on IL-$1{\beta}$ production from macrophages were $20{\mu}g/m{\ell}$ and 8 hours, respectively. This ELISA data was reconfirmed by immunoblotting assay. indicating that M11C is a good candidate for an immunomodulator. The dose and time dependent effects of M11C on the expression of IL-$1{\beta}$ mRNA from macrophages was also shown in expression of mRNA detected by RT-PCR. Treatment dose and time for the maximum expression of IL-$1{\beta}$ mRNA were $20{\mu}g/m{\ell}$ and 4 hours, respectively. Maximum gene expression of IL-$1{\beta}$ was much earlier than maximum production of it. Conclusion: As results, Korean mistletoe extract, M11C, may be used for an immunomodulator. This will be able to make up for and solve the problems caused by existent immunoagent with many adverse effects through many other studies in future including one molecule extraction.

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Is there an Association between Variants in Candidate Insulin Pathway Genes IGF-I, IGFBP-3, INSR, and IRS2 and Risk of Colorectal Cancer in the Iranian Population?

  • Karimi, Khatoon;Mahmoudi, Touraj;Karimi, Negar;Dolatmoradi, Hesamodin;Arkani, Maral;Farahani, Hamid;Vahedi, Mohsen;Parsimehr, Elham;Dabiri, Reza;Nobakht, Hossein;Asadi, Asadollah;Zali, Mohammad Reza
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권9호
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    • pp.5011-5016
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    • 2013
  • Background: Several epidemiological studies have shown associations between colorectal cancer (CRC) risk and type 2 diabetes and obesity. Any effects would be expected to be mediated through the insulin pathway. Therefore it is possible that variants of genes encoding components of the insulin pathway play roles in CRC susceptibility. In this study, we hypothesized that polymorphisms in the genes involving the insulin pathway are associated with risk of CRC. Materials and Methods: The associations of four single nucleotide polymorphisms (SNPs) in IGF-I (rs6214), IGFBP-3 (rs3110697), INSR (rs1052371), and IRS2 (rs2289046) genes with the risk of CRC were evaluated using a case-control design with 167 CRC cases and 277 controls by the PCR-RFLP method. Results: Overall, we observed no significant difference in genotype and allele frequencies between the cases and controls for the IGF-I, IGFBP-3, INSR, IRS2 gene variants and CRC before or after adjusting for confounders (age, BMI, sex, and smoking status). However, we observed that the IRS2 (rs2289046) GG genotype compared with AA+AG genotypes has a protective effect for CRC in normal weight subjects (p=0.035, OR=0.259, 95%CI= 0.074-0.907). Conclusions: These findings do not support plausible associations between polymorphic variations in IGF-I, IGFBP-3, INSR, IRS2 genes and risk of CRC. However, the evidence for a link between the IRS2 (rs2289046) variant and risk of CRC dependent on the BMI of the subjects, requires confirmation in subsequent studies with greater sample size.

돼지 FABP3 Promoter 부위 내 신규 돌연변이 탐색과 근내지방도와의 연관성 분석 (Detection of Novel Mutations in the FABP3 Promoter Region and Association Analysis with Intramuscular Fat Content in Pigs)

  • 김재환;박응우;박정진;최봉환;김태헌;서보영;정일정;임현태;오성종;이정규;전진태
    • Journal of Animal Science and Technology
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    • 제47권1호
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    • pp.1-10
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    • 2005
  • Intramuscular fat content(lMF) is considered as one of major economic traits in the pig breeding and industry. In general, high IMF results in better meat quality. Several approaches to detect quantitative trait 10ci( QTL) for IMF indicated a strong possibility of the existence of a QTL related to IMF between the microsatellite marker SW71 and SW1881 on SSC6q. Porcine FABP3 has been considered as a candidate gene affecting IMF due to its physiological roles and position on the pig genome. Two novel mutations, g.-114T> C and g.-158T>G were detected by duplicate sequencing of the porcine FABP3 promoter region. These two mutations were identified as absolute linkage disequilibrium. The g.-158T> G mutation was used for investigating relationships with growth and fat deposition traits. The GG genotype of the g.-158T> G polymorphism showed highly negative effects(P< 0.01) on body weights at 3 and 12 weeks of age, and a positive effect(P< 0.05) on IMF. However, backfat thickness(BF) and carcass fat(CF) content were not significantly associated with the genotype. The result indicates that the novel mutations, identified in this study, could be utilized as possible genetic markers to improve IMF, independent with BF.

염산/에탄올로 유도된 위손상 동물모델에서 HT074의 항궤양 효과 (Anti-ulcer effects of HT074 on HCl/EtOH induced gastric injury)

  • 김영식;박효진;송정빈;이동헌;김호철
    • 대한본초학회지
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    • 제33권4호
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    • pp.9-18
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    • 2018
  • Objectives : This study aimed to investigate the anti-ulcer effect of an standardized herbal extracts mixture of Inulae Flos and Paeoniae Radix (HT074) on acidified ethanol induced gastric injury and its potential mechanisms. Methods : Antioxidant activities of HT074 and its constituents were measured by DPPH (2,2-Diphenyl-1-picrylhydrazyl) and ABTS (2,2'-azino-bis(3-ethylbenzothiazoline-6-sulfonic acid) radical scavenging capacity. After the oral administration of HT074 at doses of 100, 300 mg/kg twice per day for 14 days, Gastric lesions were induced by oral administration of acidified ethanol in Sprague Dawley rats. Oxidative stress markers, such as super oxide dismutase (SOD) activity, concentrations of catalase (CAT) and glutathione (GSH) were measured in gastric mucosal tissues. Additionally, the expression of human mucin gene, Mucin 5AC (MUC5AC) mRNA in gastric mucosal tissues was measured. Results : HT074 showed dose dependent radical scavenging activities against DPPH and ABTS radicals. Oral administration of HT074 300 mg/kg for 14 consecutive days significantly decreased gastric lesions and histological damages induced by HCl/EtOH in rats. HT074 treatment significantly increased the activity of SOD (300 mg/kg) and concentration of GSH (100 and 300 mg/kg), however catalase concentration was not significantly increased. MUC5AC mRNA expression was significantly increased by HT074 100, 300 mg/kg treatment. Conclusions : HT074 protects the gastric mucosa from oxidative stress caused by acidified ethanol by increasing the activity of SOD, concentration of GSH and mucin biosynthesis. These findings suggest that HT074 could be an effective candidate for prevention and treatment of gastritis and gastric ulcer.

Association of Six Susceptibility Loci with Prostate Cancer in Northern Chinese Men

  • Zhang, Yu-Rong;Xu, Yong;Yang, Kuo;Liu, Ming;Wei, Dong;Zhang, Yao-Guang;Shi, Xiao-Hong;Wang, Jian-Ye;Yang, Fan;Wang, Xin;Liang, Si-Ying;Zhao, Cheng-Xiao;Wang, Fei;Chen, Xin;Sun, Liang;Zhu, Xiao-Quan;Zhu, Ling;Yang, Yi-Ge;Tang, Lei;Jiao, Hai-Yan;Huo, Zheng-Hao;Yang, Ze
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권12호
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    • pp.6273-6276
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    • 2012
  • Background/Aim: Six prostate cancer (PCa) susceptibility loci were identified in a genome-wide association study (GWAS) in populations of European decent. However, the associations of these 6 single-nucleotide polymorphisms (SNPs) with PCa has remained tobe clarified in men in Northern China. This study aimed to explore the loci associated with PCa risk in a Northern Chinese population. Methods: Blood samples and clinical information of 289 PCa patients and 288 controls from Beijing and Tianjin were collected. All risk SNPs were genotyped using polymerase chain reaction (PCR)-high resolution melting curve technology and gene sequencing. Associations between PCa and clinical covariates (age at diagnosis, prostate-specific antigen [PSA], Gleason score, tumor stage, and level of aggressiveness) and frequencies of alleles and genotypes of these SNPs were analyzed using genetic statistics. Results: Among the candidate SNPs, 11p15 (rs7127900, A) was associated with PCa risk (P = 0.02, odds ratio [OR] = 1.64, 95% confidence interval [CI] = 1.09-2.46). Genotypes showed differences between cases and controls on 11p15 (rs7127900, A), 11q13 (rs7931342, T), and HNF1B (rs4430796, A) (P = 0.03, P = 0.01, and P = 0.04, respectively). The genotype TG on 11q13 (rs7931342, T) was positively associated with an increased Gleason score (P = 0.04, OR = 2.15, 95% CI = 1.02-4.55). Patients carrying TG on 17q24 (rs1859962, G) were negatively associated with an increased body mass index (BMI) (P = 0.03, OR = 0.44, 95% CI = 0.21-0.92) while those with AG on HNF1B (rs4430796, A) were more likely to have PSA increase (P = 0.002). Conclusion: Our study suggests that 11p15 (rs7127900, A) could be a susceptibility locus associated with PCa in Northern Chinese. Genotype TG on 11q13 (rs7931342, T) could be related to an increased Gleason score, AG on HNF1B (rs4430796, A) could be associated with PSA increase, and TG on 17q24 (rs1859962, G) could be negatively associated with an increased BMI in Chinese men with PCa.

한국재래닭 1번 염색체내 초위성체 유전표지를 이용한 경제형질 연관 지역 탐색 (Potential Allelic Association of Microsatellite Markers on Chromosome 1 with Economic Traits in Korean Native Chicken)

  • 김학규;오재돈;강보석;박미나;채은진;정한민;서옥석;최호성;전광주;이학교;공홍식
    • 한국가금학회지
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    • 제35권2호
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    • pp.163-169
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    • 2008
  • 본 연구는 한국재래닭의 1번 염색체내 존재하는 17개의 MS(microsatellite) marker를 이용하여 경제형질과 관련하여 유의적인 연관성을 가진 지역을 탐색하기 위하여 실시하였다. 1번 염색체내 경제형질과의 유의적인 연관성을 가진 지역을 탐색하기 위하여 분석된 17개의 MS marker를 대상으로 각 marker별 대립 유전자의 최다 출현 빈도를 지닌 두 개의 대립 유전자를 선발하였다. 선발된 각각의 대립 유전자는 각 경제형질별 성적을 바탕으로 고능력 집단과 저능력 집단으로 나누었으며, 두 집단간의 Chi-squire 검정을 통해 경제형질과의 연관성을 확인하였다. 분석된 결과에 따르면 난중의 경우 94 cM에 위치한 MCW0106, 1개의 지역에서 유의적인 연관성이 탐색되었다. 시산일령의 경우, 3개의 지역(ADL0234, UMA 1.125, ADL0101)에서 유의적인 연관성이 탐색되었고, 체중의 경우 6개의 지역(UMA1.117, ADL0020, UMA1.019, LAMP1, ADL0101, ADL0238)에서 유의적인 연관성이 탐색되었으며, 마지막으로 산란수의 경우 2개의 지역(ADL0101, ADL0238)에서 유의적인 연관성을 확인하였다. ADL0101는 시산일령, 체중 그리고 산란수에서의 유의적인 연관성이 확인되었으며, 산란수에서는 두개의 대립 유전자(174, 178) 모두에서 유의적인 연관성이 탐색되었음을 확인하였다.